International Journal of Trichology International Journal of Trichology
 Print this page Email this page Small font sizeDefault font sizeIncrease font size
  Home | About IJT | Editorial board | Search | Ahead of print | Current Issue | Archives | Instructions | Online submission | Subscribe | Advertise | Contact us | Login   

 Table of Contents  
Year : 2013  |  Volume : 5  |  Issue : 2  |  Page : 104-106  

Unusual case of hypertrichosis

Department of Endocrinology, Lala Lajpat Rai Memorial Medical College, Meerut, Uttar Pradesh, India

Date of Web Publication12-Dec-2013

Correspondence Address:
Rajeev Philip
G10, PG Hostel, LLRM Medical College Campus, Garh Road, Meerut - 250 004, Uttar Pradesh
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0974-7753.122977

Rights and Permissions

How to cite this article:
Philip R, Sanjay S, Manish G, Keshavkumar G. Unusual case of hypertrichosis. Int J Trichol 2013;5:104-6

How to cite this URL:
Philip R, Sanjay S, Manish G, Keshavkumar G. Unusual case of hypertrichosis. Int J Trichol [serial online] 2013 [cited 2023 Mar 29];5:104-6. Available from: https://www.ijtrichology.com/text.asp?2013/5/2/104/122977


Porphyrias are a group of disorders affecting the heme biosynthetic pathway and can have neurovisceral, hematologic and cutaneous manifestations. Congenital erythropoetic porhyria (CEP) is the rarest of the porphyrias producing hypertrichosis and incidence from India is limited to case reports. [1] Hypertrichosis can occur without the classical skin manifestations of blistering and thickening of the skin.

A 15-year-old girl presented with a history of excessive growth of hair over the face and hands for the past 12 years [Figure 1]. She was evaluated multiple times for the hormonal status and which was always normal. She had a history of itching and burning sensation on exposure to sunlight. She also had a history of dark coloured urine [Figure 2]. Physical examination showed thick terminal hair over the face, forearms and below the knee. She also had thickening of the skin over the fingers, terminal onycholysis, and absorption of the digits [Figure 3]. There was reddish pigmentation of the teeth-erythrodontia and splenomegaly on physical examination. Her hemoglobon was low 8.5 g%, with elevated Lactate Dehydrogenase (LDH) (522 IU/L), suggestive of hemolysis.
Figure 1: Hypertrichosis

Click here to view
Figure 2: Skin on the hand showing scarring, thickening onycholysis, and reabsorption of phalanges-pseudoscleroderma appearance

Click here to view
Figure 3: Cola coloured urine

Click here to view

Based on the clinical history and physical findings, the diagnosis of porphyria was thought of and a urine porphyrin screening was carried out. Under ultraviolet light, acidified urine showed coral pink fluorescence of uroporphyrins (URO) [Figure 4]. In view of the age of onset, elevated URO, splenomegaly and hemolysis, final diagnosis of CEP was made. Patient has been advised to protect herself from sunlight, was given blood transfusions to suppress erythropoiesis, and was started on beta carotene.
Figure 4: Urine showing coral red fluorescence under ultra violet light

Click here to view

   Discussion Top

Porphyrias are due to altered activity of specific enzymes of the heme biosynthetic pathway and are associated with striking accumulations of heme pathway intermediates. Out of the porphyrias, X-linked protoporphyria, CEP, Porphyria cutanea tarda (PCT), Hereditary coproporphyria, variegate porphyria, erythropoietic protoporphyria have skin manifestations.

The classical dermatological manifestation is cutaneous photosensitivity producing vesicles and bullae. Thickening, scarring, and calcification of skin and reabsorption of terminal parts of the digits happen, which resemble scleroderma-the pseudoscleroderma appearance. [2] Hypertrichosis occurs over the sun exposed areas sparing the other androgen dependent areas offering a diagnostic clue.

CEP, also known as Gόnther disease is an autosomal recessive disorder due to the deficient activity of URO-synthase and the resultant accumulation of URO I and Coproporphyrin I isomers. Severe cutaneous photosensitivity and hypertrichosis begin from early infancy. [3]

The diagnosis of CEP can be confirmed by demonstration of markedly deficient URO-synthase activity.URO and COPRO porphyrins accumulate in the bone marrow, erythrocytes, plasma, urine, and feces, which produce red fluorescence under ultraviolet light. The predominant porphyrin excreated is COPRO I. and the ratio of COPRO to URO porphyrins can help to differentiate CEP from PCT. The fluorescence spectrum of plasma can also help to distinguish CEP from other porphyrias. [4]


Chronic transfusions of sufficient blood to suppress erythropoiesis are effective in reducing porphyrin production. Splenectomy reduces hemolysis and transfusion requirements. Protection from sunlight and from minor skin trauma is important. Beta carotene also has been found useful. [5]

   References Top

1.Massod QA, Hassan I, Khan D, Sameem F, Quadri MI, Hussain ST et al. Congenital erythropoietic porphyria with hemolytic anemia. Indian J Dermatol 2005;50:155-7  Back to cited text no. 1
2.Hillenkamp J, Reinhard T, Fritsch C, Kersten A, Böcking A, Sundmacher R. Ocular involvement in congenital erytropoietic porphyria (Günther's disease): Cytopathological evaluation of conjunctival and corneal changes. Br J Ophthalmol 2001;85:371.  Back to cited text no. 2
3.Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: Advances in pathogenesis and treatment. Br J Haematol 2002;117:779-95.  Back to cited text no. 3
4.Zaider E, Bickers DR. Clinical laboratory methods for diagnosis of the porphyrias. Clin Dermatol 1998;16:277-93.  Back to cited text no. 4
5.Mathews-Roth MM. Treatment of the cutaneous porphyrias. Clin Dermatol 1998;16:295-8.  Back to cited text no. 5


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

  In this article
    Article Figures

 Article Access Statistics
    PDF Downloaded38    
    Comments [Add]    

Recommend this journal